Linked Data
ClinVar Variation Id:
1142042
ClinVar RCV Id:
RCV001479706
dbSNP Id:
rs2132282639
gnomAD v4:
10-87961004-C-T
MyVariant Identifiers:
chr10:g.89720761C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87961004C>T , CM000672.2:g.87961004C>T | GRCh38 |
| NC_000010.10:g.89720761C>T , CM000672.1:g.89720761C>T | GRCh37 |
| NC_000010.9:g.89710741C>T | NCBI36 |
| NG_007466.2:g.102566C>T , LRG_311:g.102566C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1005C>T | ENSP00000514759.2:p.Cys335= | |
| ENST00000710265.1:c.912C>T | ENSP00000518161.1:p.Cys304= | |
| ENST00000472832.3:c.912C>T | ENSP00000483066.2:p.Cys304= | |
| ENST00000688158.2:n.1647C>T | ||
| ENST00000688922.2:c.*742C>T | ENSP00000508742.2:n.*742C>T | |
| ENST00000700021.1:c.867C>T | ENSP00000514757.1:p.Cys289= | |
| ENST00000700022.1:c.*251C>T | ENSP00000514758.1:n.*251C>T | |
| ENST00000700023.1:n.2070C>T | ||
| ENST00000700024.1:n.2304C>T | ||
| ENST00000700025.1:n.1681C>T | ||
| ENST00000700026.1:n.549C>T | ||
| ENST00000706954.1:c.912C>T | ENSP00000516674.1:p.Cys304= | |
| ENST00000706955.1:c.*947C>T | ENSP00000516675.1:n.*947C>T | |
| ENST00000686459.1:c.*498C>T | ENSP00000508909.1:n.*498C>T | |
| ENST00000688158.1:c.*1023C>T | ENSP00000509254.1:n.*1023C>T | |
| ENST00000688308.1:c.912C>T | ENSP00000508752.1:p.Cys304= | |
| ENST00000688922.1:c.833C>T | ||
| ENST00000693560.1:c.1431C>T | ENSP00000509861.1:p.Cys477= | |
| ENST00000371953.8:c.912C>T MANE Select | ENSP00000361021.3:p.Cys304= | |
| ENST00000371953.7:c.912C>T | ENSP00000361021.3:p.Cys304= | |
| ENST00000472832.2:c.339C>T | ENSP00000483066.1:p.Cys113= | |
| NM_000314.5:c.912C>T | NP_000305.3:p.Cys304= | |
| NM_000314.6:c.912C>T | NP_000305.3:p.Cys304= | |
| NM_001304717.2:c.1431C>T | NP_001291646.2:p.Cys477= | |
| NM_001304718.1:c.321C>T | NP_001291647.1:p.Cys107= | |
| XM_006717926.2:c.867C>T | XP_006717989.1:p.Cys289= | |
| XM_011539981.1:c.912C>T | XP_011538283.1:p.Cys304= | |
| XM_011539982.1:c.816C>T | XP_011538284.1:p.Cys272= | |
| XR_945791.1:n.1482C>T | ||
| NM_000314.7:c.912C>T | NP_000305.3:p.Cys304= | |
| NM_001304717.5:c.1431C>T | NP_001291646.4:p.Cys477= | |
| NM_001304718.2:c.321C>T | NP_001291647.1:p.Cys107= | |
| NM_000314.8:c.912C>T MANE Select | NP_000305.3:p.Cys304= |